ORPHA:2895
Pinsky-Di George-Harley syndrome
inactive · moved to ORPHA:2510Micro syndrome
Synonyms: Microphthalmia-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Micro syndrome
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pinsky-Di George-Harley syndrome | Microphthalmia-intellectual disability syndrome |
| fr | Syndrome de Pinsky-Di George-Harley | Syndrome de microphtalmie-déficience intellectuelle |
| de | Pinsky-Di George-Harley-Syndrom | Mikrophthalmie mit Intelligenzminderung |
| es | Síndrome de Pinsky-Di George-Harley | Microftalmia-discapacidad intelectual |
| it | Sindrome di Pinsky-Di George-Harley | Microftalmia - ritardo mentale |
| nl | Syndroom van Pinsky-Di George-Harley | Microftalmie - intellectuele achterstand-syndroom |
| pt | Síndrome Pinsky-Di George-Harley | Síndrome de microftalmia-perturbação do desenvolvimento intelectual |
| pl | Zespół Pinsky'ego, Di George'a i Harley'a | Małoocze - upośledzenie umysłowe |
| cs | Pinskyův-Di Georgeův-Harleyův syndrom | Syndrom zahrnující mikroftalmii a mentální deficit · Pinsky-Di George-Harleyův syndrom |
| uk | Синдром Пінського-Ді Джорджи-Харлі | Синдром мікрофтальмії та інтелектуальної недостатності |
| zh | Pinsky-Di George-Harley综合征 | 小眼-智力障碍综合征 |
| tr | Pinsky-Di George-Harley sendromu | Mikroftalmi-zihinsel yetersizlik sendromu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C2931500 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Not placed in any Orphanet classification in this release.
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2895
- This record as JSON: /data/d/2895.json